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DOID:3209 - junctional epidermolysis bullosa
Disease Ontology Definition:An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
Synonyms: congenital junctional epidermolysis bullosa, congenital junctional epidermolysis bullosa (disorder),
Xenbase Genes
:
itga6,
lamb3,
lama3,
lamc2,
itgb4,
plec,
col17a1
| MONDO:0017612 - junctional epidermolysis bullosa |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
epidermolysis bullosa (is_a)